Ornella Guardamagna

Global perspective of familial hypercholesterolaemia: a cross-sectional study from the EAS Familial Hypercholesterolaemia Studies Collaboration (FHSC)

Antonio J. Vallejo‐Vaz, Christophe Stevens, Alexander R.M. Lyons et al. · The Lancet · 2021 · 305 citations · Full text

Public Health, Endocrinology, Genetics +13

A Novel Loss of Function Mutation of <i>PCSK9</i> Gene in White Subjects With Low-Plasma Low-Density Lipoprotein Cholesterol

Tommaso Fasano, Angelo B. Cefalù, Enza Di Leo et al. · Arteriosclerosis Thrombosis and Vascular Biology · 2006 · 126 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Rapid progression and mortality of lysosomal acid lipase deficiency presenting in infants

Simon Jones, Vassili Valayannopoulos, Eugene Schneider et al. · Genetics in Medicine · 2015 · 117 citations · Full text

Medicine, Pathology, Pediatrics +15

Clinical Features of Lysosomal Acid Lipase Deficiency

Barbara K. Burton, Patrick Deegan, Gregory M. Enns et al. · Journal of Pediatric Gastroenterology and Nutrition · 2015 · 115 citations · Full text

Life Sciences, Biochemistry, Pediatrics +14

Lysosomal lipase deficiency: Molecular characterization of eleven patients with Wolman or cholesteryl ester storage disease

Tommaso Fasano, Livia Pisciotta, Letizia Bocchi et al. · Molecular Genetics and Metabolism · 2011 · 98 citations

Life Sciences, Biochemistry, Molecular Biology +17